A selection of Shannon pipeline publications can be found below. To view additional publications related to Shannon pipeline, please view the "Learn more" page.
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Shirley BC, Mucaki EJ, Whitehead T, et al. (2013) Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences. Genomics Proteomics Bioinformatics. doi: 10.1016/j.gpb.2013.01.008.
Mucaki EJ, Caminsky NG, Perri AM, et al. (2016) A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. BMC Medical Genomics. doi:10.1186/s12920-016-0178-5.
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Caminsky NG, Mucaki EJ, Perri AM, et al. (2016) Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. Human Mutation. doi:10.1002/humu.22972
Lu R, Mucaki EJ and Rogan PK. (2016) Discovery and Validation of Information Theory-Based Transcription Factor and Cofactor Binding Site Motifs. Nucleic Acids Research. DOI:10.1093/nar/gkw1036
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Dos Santos ES, Caputo SM, Castera L, et al. (2017) Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition. Breast Cancer Res Treat. doi:10.1007/s10549-017-4602-0
Yang XR, Devi BCR, Sung H, et al. (2017) Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia. Breast Cancer Res Treat. DOI:10.1007/s10549-017-4356-8